FRYL Gene (FRY Like Transcription Coactivator)
A gene encoding a transcriptional coactivator involved in development and potential tumorigenesis.
Gene Information Card
| Symbol | FRYL |
|---|---|
| Full Name | FRY like transcription coactivator |
| Gene Type | protein-coding |
| Chromosomal Location | 4p12 |
| NCBI Gene ID | 84223 ncbi.nlm.nih.gov/gene/84223 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q5T890 |
| OMIM ID | 614675 |
| HGNC ID | 23382 |
| Aliases | FLJ10534, KIAA0826, MGC138290 |
Description
FRYL (FRY like transcription coactivator) is a protein-coding gene located on chromosome 4p12. It encodes a large protein that functions as a transcriptional coactivator, involved in regulating gene expression during development. FRYL is homologous to the Drosophila fry gene, which is essential for proper cell shape and organ development. In humans, FRYL has been implicated in neurodevelopmental disorders and various cancers, with mutations and altered expression observed in tumor samples.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and speech delay | Loss-of-function mutations in FRYL disrupt transcriptional regulation, leading to developmental phenotypes. | ClinVar, OMIM |
| Colorectal cancer | FRYL mutations and copy number alterations may contribute to tumorigenesis through dysregulated transcription. | COSMIC |
| Lung cancer | Somatic mutations and altered expression of FRYL have been reported in lung adenocarcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells; moderate expression |
| HeLa | 10.2 | Cervical cancer cells; moderate expression |
| A549 | 7.8 | Lung cancer cells; low expression |
| HCT 116 | 6.5 | Colorectal cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.5678A>G (p.Gln1893Arg) | Missense | <0.1% | Unknown; possibly damaging |
| c.8901_8902insA (p.Leu2967Thrfs*5) | Frameshift | <0.1% | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in FRYL are predicted to cause loss of function, leading to haploinsufficiency or complete loss of protein activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in FRYL currently.
Dominant Negative (DN)
No evidence of dominant-negative mutations in FRYL currently.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • nucleus |
| • regulation of transcription by RNA polymerase II | • cell differentiation |
| • nervous system development |
Pathways
• Notch signaling pathway
• Wnt signaling pathway
Protein Summary
The FRYL protein is a large, nuclear-localized transcriptional coactivator. It contains multiple conserved domains, including a FRY domain, and interacts with various transcription factors to regulate gene expression. FRYL is essential for normal development, particularly of the nervous system, and its dysregulation is associated with neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRYL Knockout HEK293 Cell Line | EDJ-KQ7791 | Human | 285527 | Details Get a Quote |
| FRYL Knockout HeLa Cell Line | EDJ-KQ31963 | Human | 285527 | Details Get a Quote |
| FRYL Knockout A-549 Cell Line | EDJ-KQ33285 | Human | 285527 | Details Get a Quote |
| FRYL Knockout HCT 116 Cell Line | EDJ-KQ33286 | Human | 285527 | Details Get a Quote |
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